BRCA1 Protein

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  Subject Areas on Research

  • A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. 
  • A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. 
  • A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 
  • Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer families. 
  • An inevitable dilemma: prenatal testing for mutations in the BRCA1 breast-ovarian cancer susceptibility gene. 
  • Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families. 
  • Assessment of the prevalence of de novo mutations in the BRCA1 and BRCA2 genes. 
  • Association and prognostic significance of BRCA1/2-mutation status with neoantigen load, number of tumor-infiltrating lymphocytes and expression of PD-1/PD-L1 in high grade serous ovarian cancer. 
  • BRCA mutations and risk of prostate cancer in Ashkenazi Jews. 
  • BRCA testing within the Department of Veterans Affairs: concordance with clinical practice guidelines. 
  • BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer. 
  • BRCA1 expression is not directly responsive to estrogen. 
  • BRCA1 immunohistochemistry in a molecularly characterized cohort of ovarian high-grade serous carcinomas. 
  • BRCA1 is required for common-fragile-site stability via its G2/M checkpoint function. 
  • BRCA1 mutations in primary breast and ovarian carcinomas. 
  • BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. 
  • Brain Metastases in Pancreatic Ductal Adenocarcinoma: Assessment of Molecular Genotype-Phenotype Features-An Entity With an Increasing Incidence? 
  • Breast cancer risk factors differ between Asian and white women with BRCA1/2 mutations. 
  • Breast cancer risks in individuals testing negative for a known family mutation in BRCA1 or BRCA2. 
  • Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. 
  • CRISPR/Cas9-Mediated BRCA1 Knockdown Adipose Stem Cells Promote Breast Cancer Progression. 
  • Cell cycle control of BRCA2. 
  • Charting the landscape of tandem BRCT domain-mediated protein interactions. 
  • Common variation in the BRCA1 gene and prostate cancer risk. 
  • Comparing Coordinated Versus Sequential Salpingo-Oophorectomy for BRCA1 and BRCA2 Mutation Carriers With Breast Cancer. 
  • Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models. 
  • Cost Comparison of Genetic Testing Strategies in Women With Epithelial Ovarian Cancer. 
  • Cost Effectiveness of Risk-Reducing Mastectomy versus Surveillance in BRCA Mutation Carriers with a History of Ovarian Cancer. 
  • Cost-effectiveness of BRCA1 and BRCA2 mutation testing to target PARP inhibitor use in platinum-sensitive recurrent ovarian cancer. 
  • DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers. 
  • Detection of BRCA1 mutations in women with early-onset ovarian cancer by use of the protein truncation test. 
  • Development of human protein reference database as an initial platform for approaching systems biology in humans. 
  • Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women. 
  • Estimating the number of potential family members eligible for BRCA1 and BRCA2 mutation testing in a "Traceback" approach. 
  • Evaluation of established breast cancer risk factors as modifiers of BRCA1 or BRCA2: a multi-center case-only analysis. 
  • Genetic/familial high-risk assessment: breast and ovarian. 
  • Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. 
  • Germline Genetic Testing: What the Breast Surgeon Needs to Know. 
  • Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death. 
  • Human ovarian cancer of the surface epithelium. 
  • Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. 
  • Identification of a new subclass of Alu DNA repeats which can function as estrogen receptor-dependent transcriptional enhancers. 
  • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. 
  • Identification of six new susceptibility loci for invasive epithelial ovarian cancer. 
  • Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. 
  • Impact of gene patents and licensing practices on access to genetic testing for inherited susceptibility to cancer: comparing breast and ovarian cancers with colon cancers. 
  • Improving indel detection specificity of the Ion Torrent PGM benchtop sequencer. 
  • Incorporating information regarding preimplantation genetic diagnosis into discussions concerning testing and risk management for BRCA1/2 mutations: a qualitative study of patient preferences. 
  • Invasion Patterns of Metastatic Extrauterine High-grade Serous Carcinoma With BRCA Germline Mutation and Correlation With Clinical Outcomes. 
  • Involvement of Brca1 in S-phase and G(2)-phase checkpoints after ionizing irradiation. 
  • Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage. 
  • Is It time to stratify for BRCA mutation status in therapeutic trials in ovarian cancer? 
  • Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. 
  • Localization of the VHR phosphatase gene and its analysis as a candidate for BRCA1. 
  • Managing hereditary ovarian cancer risk. 
  • Molecular profiling of human mammary gland links breast cancer risk to a p27(+) cell population with progenitor characteristics. 
  • Morphologic patterns associated with BRCA1 and BRCA2 genotype in ovarian carcinoma. 
  • Oral contraceptives and risk of ovarian cancer and breast cancer among high-risk women: a systematic review and meta-analysis. 
  • Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. 
  • Perturbed myoepithelial cell differentiation in BRCA mutation carriers and in ductal carcinoma in situ. 
  • Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathway. 
  • Phosphorylation of serine 1387 in Brca1 is specifically required for the Atm-mediated S-phase checkpoint after ionizing irradiation. 
  • Pilot study of rapid MR pancreas screening for patients with BRCA mutation. 
  • Pioneering geneticist Mary-Claire King receives the 2014 Lasker~Koshland Special Achievement Award in Medical Science. 
  • Posttraumatic stress associated with cancer history and BRCA1/2 genetic testing. 
  • Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort. 
  • Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1. 
  • RE: Breast Cancer Risk After Salpingo-Oophorectomy in Healthy BRCA1/2 Mutation Carriers: Revisiting the Evidence for Risk Reduction. 
  • Refining the role of BRCA1 in combating oxidative stress. 
  • Regulation of BRCA1 phosphorylation by interaction with protein phosphatase 1alpha. 
  • Repair versus Checkpoint Functions of BRCA1 Are Differentially Regulated by Site of Chromatin Binding. 
  • Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. 
  • Risk factors for ovarian cancers with and without microsatellite instability. 
  • Risk-reducing salpingo-oophorectomy in patients with germline mutations in BRCA1 or BRCA2. 
  • Screening and prevention of hereditary gynecologic cancers. 
  • Screening for the breast cancer gene (BRCA1) using a biochip system and molecular beacon probes immobilized on solid surfaces. 
  • Spatial organization of the mammalian genome surveillance machinery in response to DNA strand breaks. 
  • Surface-enhanced Raman scattering substrate based on a self-assembled monolayer for use in gene diagnostics. 
  • Survival Benefit of Germline BRCA Mutation is Associated with Residual Disease in Ovarian Cancer. 
  • Survival in epithelial ovarian cancer: a multivariate analysis incorporating BRCA mutation status and platinum sensitivity. 
  • Systematic Analysis of Splice-Site-Creating Mutations in Cancer. 
  • The genetic attributable risk of breast and ovarian cancer. 
  • Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation. 
  • Two identical triplet sisters carrying a germline BRCA1 gene mutation acquire very similar breast cancer somatic mutations at multiple other sites throughout the genome. 
  • Yeast screens identify the RNA polymerase II CTD and SPT5 as relevant targets of BRCA1 interaction. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Moorman, Patricia Gripka, Professor in Family Medicine and Community Health, Duke Cancer Institute